High resolution comparative genomic hybridisation analysis for
detecting small constitutional chromosome abnormalities

D 2005

High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities

VRANOVÁ, Vladimíra, Petr KUGLÍK, Martina PEŠÁKOVÁ, Iva SLÁMOVÁ, Dita ŽEŽULKOVÁ et. al.

Basic information

Original name

High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities

Name in Czech

Využití techniky komparativní genomové hybridizace s vysokým rozlišením k detekci malých vrozených chromozomových aberací

Authors

VRANOVÁ, Vladimíra (703 Slovakia), Petr KUGLÍK (203 Czech Republic, guarantor), Martina PEŠÁKOVÁ (203 Czech Republic), Iva SLÁMOVÁ (203 Czech Republic), Dita ŽEŽULKOVÁ (203 Czech Republic), Marcela VILÉMOVÁ (203 Czech Republic), Alexandra OLTOVÁ (203 Czech Republic) and Renata GAILLYOVÁ (203 Czech Republic)

Edition

Praha, European Journal of Human Genetics, p. 83-83, 2005

Publisher

Nature Publishing Group

Other information

Language

English

Type of outcome

Stať ve sborníku

Field of Study

Genetics and molecular biology

Country of publisher

Denmark

Confidentiality degree

není předmětem státního či obchodního tajemství

Impact factor

Impact factor: 3.251

RIV identification code

RIV/00216224:14310/05:00014609

Organization unit

Faculty of Science

ISSN

Keywords in English

HR-CGH; FISH; spectral karyotyping; constitutional chromosome aberrations

Abstract

ORIG CZ

V originále

Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developed metod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features. In our work we performed the characterization of de novo alterations such as add(1p), add(4p), add(6p) and add(17p) by using HR-CGH. The results were subsequently confirmed by FISH and spectral karyotyping (SKY).The following findings were der(1)t(1;11), inv(4p), dup(6p) and der(17)t(11;17). We conclude that HR-CGH can be used as excellent diagnostic tool for clarification and identification of chromosomal imbalances not evident on routine cytogenetic analysis.

In Czech

Práce se zabývá využitím techniky komparativní genomové hybridizace pi objasování pvod drobných vrozených chromozomových aberací u 4 pacient s dysmorfickými rysy.

Links

MSM0021622415, plan (intention)

Name: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministry of Education, Youth and Sports of the CR, Molecular basis of cell and tissue regulations

Citovat

VRANOVÁ, Vladimíra, Petr KUGLÍK, Martina PEŠÁKOVÁ, Iva SLÁMOVÁ, Dita ŽEŽULKOVÁ, Marcela VILÉMOVÁ, Alexandra OLTOVÁ and Renata GAILLYOVÁ. High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities. In European Journal of Human Genetics. Praha: Nature Publishing Group, 2005, p. 83. ISSN 1018-4813.

@inproceedings{618527,
   author = {Vranová, Vladimíra and Kuglík, Petr and Pešáková, Martina and Slámová, Iva and Žežulková, Dita and Vilémová, Marcela and Oltová, Alexandra and Gaillyová, Renata},
   address = {Praha},
   booktitle = {European Journal of Human Genetics},
   keywords = {HR-CGH; FISH; spectral karyotyping; constitutional chromosome aberrations},
   language = {eng},
   location = {Praha},
   pages = {83-83},
   publisher = {Nature Publishing Group},
   title = {High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities},
   year = {2005}
}

TY  - JOUR
ID  - 618527
AU  - Vranová, Vladimíra - Kuglík, Petr - Pešáková, Martina - Slámová, Iva - Žežulková, Dita - Vilémová, Marcela - Oltová, Alexandra - Gaillyová, Renata
PY  - 2005
TI  - High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities
PB  - Nature Publishing Group
CY  - Praha
KW  - HR-CGH
KW  - FISH
KW  - spectral karyotyping
KW  - constitutional chromosome aberrations
N2  - Comparative genomic hybridization (CGH) is a molecular cytogentic technique that can characterize excess and missing cytogenetic materiál often unrecognizable by G-banding. Recently, CGH has been further improved as high-resolution CGH which may detect aberrations down to 3-5 Mb and enhance the sensitivity in the detection of aberrations. Although the major application of CGH has been in the field of cancer genetics, the utilization of CGH as a tool in clinical cytogenetics is also increasing. In clinical cytogenetics CGH has been particularly useful by facilitating the identification and characterization of intrachromosomal duplication, deletions, unbalanced translocations and maker chromosomes. We here report the application of the recently developed metod of high resolution CGH (HR-CGH) for clarification of small terminal imbalances in 4 patients with abnormal karyotypes and dysmorphic features. In our work we performed the characterization of de novo alterations such as add(1p), add(4p), add(6p) and add(17p) by using HR-CGH. The results were subsequently confirmed by FISH and spectral karyotyping (SKY).The following findings were der(1)t(1;11), inv(4p), dup(6p) and der(17)t(11;17). We conclude that HR-CGH can be used as excellent diagnostic tool for clarification and identification of chromosomal imbalances not evident on routine cytogenetic analysis.
ER  -

VRANOVÁ, Vladimíra, Petr KUGLÍK, Martina PEŠÁKOVÁ, Iva SLÁMOVÁ, Dita ŽEŽULKOVÁ, Marcela VILÉMOVÁ, Alexandra OLTOVÁ and Renata GAILLYOVÁ. High resolution comparative genomic hybridisation analysis for detecting small constitutional chromosome abnormalities. In \textit{European Journal of Human Genetics}. Praha: Nature Publishing Group, 2005, p.~83. ISSN~1018-4813.

Detailed Information on Publication Record